{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA372625390",
  "communityStandardTitle": [
    "NM_130849.4(SLC39A4):c.318C>G (p.Asn106Lys)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.145641350G>C?assembly=hg19",
        "id": "chr8:g.145641350G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.144415966G>C?assembly=hg38",
        "id": "chr8:g.144415966G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121434290",
        "rs": 121434290
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-144415966-G-C?dataset=gnomad_r4",
        "id": "8-144415966-G-C",
        "variant": "8:144415966 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 144415966,
          "referenceAllele": "G",
          "start": 144415965
        }
      ],
      "hgvs": [
        "NC_000008.11:g.144415966G>C",
        "CM000670.2:g.144415966G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 145641350,
          "referenceAllele": "G",
          "start": 145641349
        }
      ],
      "hgvs": [
        "NC_000008.10:g.145641350G>C",
        "CM000670.1:g.145641350G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 145612158,
          "referenceAllele": "G",
          "start": 145612157
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145612158G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5925,
          "referenceAllele": "C",
          "start": 5924
        }
      ],
      "hgvs": [
        "NG_012234.2:g.5925C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002306"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 373,
          "referenceAllele": "C",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "ENST00000301305.8:c.318C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301305.4:p.Asn106Lys",
        "hgvsWellDefined": "ENSP00000301305.4:p.Asn106Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744832",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301305.8:c.318C>G"
          },
          "RefSeq": {
            "hgvs": "NM_130849.4:c.318C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301305.4:p.Asn106Lys"
          },
          "RefSeq": {
            "hgvs": "NP_570901.3:p.Asn106Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 547,
          "referenceAllele": "C",
          "start": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "ENST00000276833.9:c.243C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000276833.5:p.Asn81Lys",
        "hgvsWellDefined": "ENSP00000276833.5:p.Asn81Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252718"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 424,
          "referenceAllele": "C",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "ENST00000301305.7:c.318C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000301305.3:p.Asn106Lys",
        "hgvsWellDefined": "ENSP00000301305.3:p.Asn106Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254990"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 222,
          "endIntronDirection": "-",
          "endIntronOffset": 546,
          "referenceAllele": "C",
          "start": 222,
          "startIntronDirection": "-",
          "startIntronOffset": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "ENST00000526658.1:c.193-547C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434512.1:n.193-547C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352482"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 568,
          "referenceAllele": "C",
          "start": 567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "NM_017767.2:c.243C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_060237.2:p.Asn81Lys",
        "hgvsWellDefined": "NP_060237.2:p.Asn81Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035174"
    },
    {
      "@id": "http://reg.genome.network/allele/PA116336",
      "coordinates": [
        {
          "allele": "G",
          "end": 424,
          "referenceAllele": "C",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "NM_130849.3:c.318C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_570901.2:p.Asn106Lys",
        "hgvsWellDefined": "NP_570901.2:p.Asn106Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040441"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 403,
          "referenceAllele": "C",
          "start": 402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "XM_006716599.1:c.318C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716662.1:p.Asn106Lys",
        "hgvsWellDefined": "XP_006716662.1:p.Asn106Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071756"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1437,
          "endIntronDirection": "-",
          "endIntronOffset": 546,
          "referenceAllele": "C",
          "start": 1437,
          "startIntronDirection": "-",
          "startIntronOffset": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "XM_011517153.1:c.193-547C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515455.1:n.193-547C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084352"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 548,
          "endIntronDirection": "-",
          "endIntronOffset": 546,
          "referenceAllele": "C",
          "start": 548,
          "startIntronDirection": "-",
          "startIntronOffset": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "XM_024447188.1:c.193-547C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302956.1:n.193-547C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580782"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 549,
          "endIntronDirection": "-",
          "endIntronOffset": 546,
          "referenceAllele": "C",
          "start": 549,
          "startIntronDirection": "-",
          "startIntronOffset": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "XM_024447189.1:c.193-547C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302957.1:n.193-547C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580783"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 247,
          "endIntronDirection": "-",
          "endIntronOffset": 546,
          "referenceAllele": "C",
          "start": 247,
          "startIntronDirection": "-",
          "startIntronOffset": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "NM_001374839.1:c.193-547C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361768.1:n.193-547C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693392"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916056181",
      "coordinates": [
        {
          "allele": "G",
          "end": 484,
          "referenceAllele": "C",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "NM_017767.3:c.243C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_060237.3:p.Asn81Lys",
        "hgvsWellDefined": "NP_060237.3:p.Asn81Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697870"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830185954",
      "coordinates": [
        {
          "allele": "G",
          "end": 373,
          "referenceAllele": "C",
          "start": 372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017129",
      "geneNCBI_id": 55630,
      "geneSymbol": "SLC39A4",
      "hgvs": [
        "NM_130849.4:c.318C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_570901.3:p.Asn106Lys",
        "hgvsWellDefined": "NP_570901.3:p.Asn106Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699622",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301305.8:c.318C>G"
          },
          "RefSeq": {
            "hgvs": "NM_130849.4:c.318C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301305.4:p.Asn106Lys"
          },
          "RefSeq": {
            "hgvs": "NP_570901.3:p.Asn106Lys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}